@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_head {
  this: np:hasAssertion dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_assertion;
    np:hasProvenance dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_provenance;
    np:hasPublicationInfo dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_assertion a np:Assertion .
  
  dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_provenance a np:Provenance .
  
  dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_assertion {
  miriam-gene:189 a ncit:C16612 .
  
  lld:C0020500 a ncit:C7057 .
  
  dgn-gda:DGNf5031ae04287a5223b04716e59647035 sio:SIO_000628 miriam-gene:189, lld:C0020500;
    a sio:SIO_001121 .
}

dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_provenance {
  dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_assertion dcterms:description
      "[Genetic analysis of 55 unrelated probands with PH1 from the Mayo Clinic Hyperoxaluria Center, to date the largest with availability of complete sequencing across the entire AGXT coding region and documented hepatic AGT deficiency, suggests that a molecular diagnosis (identification of two disease alleles) is feasible in 96% of patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:17460142;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP896072.RAOL2n-7icsOGUz834ec-tAsDRYuSDCPT15GUztqEL40k130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:10+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}